Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (GDACCF, MIM #617260) is a autosomal dominant genetic disorder caused by mutations in the ZNF148 gene (MIM *601897). The prevalence of GDACCF is unknown, but presumably rare. Three of the four initially described patients were ascertained from a cohort of 2172 probands with intellectual disability and/or multiple congenital anomalies who underwent whole exome sequencing (WES) trio analyses of patients with ID and/or MCA and both their parents. All probands described to date carried heterozygous truncating variants in the ZNF148 gene consistent with autosomal-dominant inheritance. However, all mutations described to date occurred de novo and no cases of parental inheritance have been described.
ZNF148